{ "uniprot_canonical_ac": "O00533-1", "uniprot_ac": "O00533", "uniprot_id": "NCHL1_HUMAN", "mass": { "chemical_mass": 135071.0, "monoisotopic_mass": 135071.0 }, "refseq": { "ac": "NP_001240316", "name": "neural cell adhesion molecule L1-like protein isoform 2 precursor", "summary": "The protein encoded by this gene is a member of the L1 gene family of neural cell adhesion molecules. It is a neural recognition molecule that may be involved in signal transduction pathways. The deletion of one copy of this gene may be responsible for mental defects in patients with 3p- syndrome. This protein may also play a role in the growth of certain cancers. Alternate splicing results in both coding and non-coding variants. [provided by RefSeq, Nov 2011].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001240316" }, "gene_names": [ { "name": "CHL1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O00533", "id": "O00533" }, { "name": "CALL; L1CAM2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001240316", "id": "NP_001240316" }, { "name": "CALL", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O00533", "id": "O00533" }, { "name": "CHL1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001240316", "id": "NP_001240316" } ], "protein_names": [ { "name": "Neural cell adhesion molecule L1-like protein", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O00533" }, { "name": "Close homolog of L1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00533" }, { "name": "cell adhesion molecule with homology to L1CAM (close homologue of L1); cell adhesion molecule with homology to L1CAM (close homolog of L1); L1 cell adhesion molecule 2; neural cell adhesion molecule L1-like protein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001240316", "id": "NP_001240316" }, { "name": "neural cell adhesion molecule L1-like protein isoform 2 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001240316", "id": "NP_001240316" } ], "function": [ { "annotation": "An association between a missense polymorphism in the close homologue of L1 (CHL1, CALL) gene and schizophrenia. GeneRIF: Observational study of gene-disease association. (HuGE Navigator)", "evidence": [ { "database": "RefSeq", "id": "NP_001240316", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001240316" }, { "database": "PubMed", "id": "11986985", "url": "https://glygen.org/publication/PubMed/11986985" } ] }, { "annotation": "Analysis of the functional sequences in the promoter region of the human adhesion molecule close homolog of L1.", "evidence": [ { "database": "RefSeq", "id": "NP_001240316", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001240316" }, { "database": "PubMed", "id": "33054469", "url": "https://glygen.org/publication/PubMed/33054469" } ] }, { "annotation": "Cell adhesion molecule L1 like plays a role in the pathogenesis of idiopathic hypogonadotropic hypogonadism. Erratum:[J Endocrinol Invest. 2023 Apr;46(4):853. PMID: 36315353]", "evidence": [ { "database": "RefSeq", "id": "NP_001240316", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001240316" }, { "database": "PubMed", "id": "33453020", "url": "https://glygen.org/publication/PubMed/33453020" } ] }, { "annotation": "Exosomal miR-338-3p suppresses non-small-cell lung cancer cells metastasis by inhibiting CHL1 through the MAPK signaling pathway. Erratum:[Cell Death Dis. 2022 May 19;13(5):473. PMID: 35589682] Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001240316", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001240316" }, { "database": "PubMed", "id": "34718336", "url": "https://glygen.org/publication/PubMed/34718336" } ] }, { "annotation": "Expression of CHL1 in Clear Cell Renal Cell Carcinoma and its Association With Prognosis.", "evidence": [ { "database": "RefSeq", "id": "NP_001240316", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001240316" }, { "database": "PubMed", "id": "35262525", "url": "https://glygen.org/publication/PubMed/35262525" } ] }, { "annotation": "Extracellular matrix and cell adhesion protein that plays a role in nervous system development and in synaptic plasticity. Both soluble and membranous forms promote neurite outgrowth of cerebellar and hippocampal neurons and suppress neuronal cell death. Plays a role in neuronal positioning of pyramidal neurons and in regulation of both the number of interneurons and the efficacy of GABAergic synapses. May play a role in regulating cell migration in nerve regeneration and cortical development. Potentiates integrin-dependent cell migration towards extracellular matrix proteins. Recruits ANK3 to the plasma membrane (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "O00533", "url": "https://www.uniprot.org/uniprot/O00533#function" } ] }, { "annotation": "Ezrin interacts with the tumor suppressor CHL1 and promotes neuronal differentiation of human neuroblastoma. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001240316", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001240316" }, { "database": "PubMed", "id": "33326488", "url": "https://glygen.org/publication/PubMed/33326488" } ] }, { "annotation": "L1 could drive progression by enhancing cell migration and tumor growth in ovarian carcinoma.", "evidence": [ { "database": "RefSeq", "id": "NP_001240316", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001240316" }, { "database": "PubMed", "id": "15704102", "url": "https://glygen.org/publication/PubMed/15704102" } ] }, { "annotation": "Observational study of gene-disease association. (HuGE Navigator)", "evidence": [ { "database": "RefSeq", "id": "NP_001240316", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001240316" }, { "database": "PubMed", "id": "15653271", "url": "https://glygen.org/publication/PubMed/15653271" } ] }, { "annotation": "The protein encoded by this gene is a member of the L1 gene family of neural cell adhesion molecules. It is a neural recognition molecule that may be involved in signal transduction pathways. The deletion of one copy of this gene may be responsible for mental defects in patients with 3p- syndrome. This protein may also play a role in the growth of certain cancers. Alternate splicing results in both coding and non-coding variants. [provided by RefSeq, Nov 2011].", "evidence": [ { "database": "RefSeq", "id": "NP_001240316", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001240316" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs1188788058", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1188788058" }, { "id": "rs1188788058", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1188788058" } ], "glycoeffect": [ "n-glyco-sequon-gain", "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 89, "end_pos": 89, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SGT->NGT); n-glyco-sequon-loss (NNS->NNN).", "chr_id": "3", "chr_pos": "391073", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S89", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs201824716", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201824716" }, { "id": "rs201824716", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs201824716" }, { "id": "rs201824716", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201824716" }, { "id": "rs201824716", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201824716" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 1028, "end_pos": 1028, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLT->NLI).", "chr_id": "3", "chr_pos": "398263", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.0002", "site_lbl": "T1028", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O00533", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O00533" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1130, "end_pos": 1130, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (DET->NET).", "chr_id": "3", "chr_pos": "401676", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D1130", "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - 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hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O00533", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00533" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": 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"C9JH37-1", "url": "https://www.uniprot.org/uniprot/C9JH37-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JW79", "url": "https://www.uniprot.org/uniprot/C9JW79", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JW79-1", "url": "https://www.uniprot.org/uniprot/C9JW79-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8WEP4", "url": "https://www.uniprot.org/uniprot/F8WEP4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8WEP4-1", "url": "https://www.uniprot.org/uniprot/F8WEP4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C0J0", "url": "https://www.uniprot.org/uniprot/H7C0J0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C0J0-1", "url": "https://www.uniprot.org/uniprot/H7C0J0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O00533", "url": "https://www.uniprot.org/uniprot/O00533", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O00533-1", "url": "https://www.uniprot.org/uniprot/O00533-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O00533-2", "url": "https://www.uniprot.org/uniprot/O00533-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MEPLLLGRGLIVYLMFLLLKFSKAIEIPSSVQQVPTIIKQSKVQVAFPFDEYFQIECEAKGNPEPTFSWTKDGNPFYFTDHRIIPSNNSGTFRIPNEGHISHFQGKYRCFASNKLGIAMSEEIEFIVPSVPKFPKEKIDPLEVEEGDPIVLPCNPPKGLPPLHIYWMNIELEHIEQDERVYMSQKGDLYFANVEEKDSRNDYCCFAAFPRLRTIVQKMPMKLTVNSSNSIKQRKPKLLLPPTESGSESSITILKGEILLLECFAEGLPTPQVDWNKIGGDLPKGRETKENYGKTLKIENVSYQDKGNYRCTASNFLGTATHDFHVIVEEPPRWTKKPQSAVYSTGSNGILLCEAEGEPQPTIKWRVNGSPVDNHPFAGDVVFPREISFTNLQPNHTAVYQCEASNVHGTILANANIDVVDVRPLIQTKDGENYATVVGYSAFLHCEFFASPEAVVSWQKVEEVKPLEGRRYHIYENGTLQINRTTEEDAGSYSCWVENAIGKTAVTANLDIRNATKLRVSPKNPRIPKLHMLELHCESKCDSHLKHSLKLSWSKDGEAFEINGTEDGRIIIDGANLTISNVTLEDQGIYCCSAHTALDSAADITQVTVLDVPDPPENLHLSERQNRSVRLTWEAGADHNSNISEYIVEFEGNKEEPGRWEELTRVQGKKTTVILPLAPFVRYQFRVIAVNEVGRSQPSQPSDHHETPPAAPDRNPQNIRVQASQPKEMIIKWEPLKSMEQNGPGLEYRVTWKPQGAPVEWEEETVTNHTLRVMTPAVYAPYDVKVQAINQLGSGPDPQSVTLYSGEDYPDTAPVIHGVDVINSTLVKVTWSTVPKDRVHGRLKGYQINWWKTKSLLDGRTHPKEVNILRFSGQRNSGMVPSLDAFSEFHLTVLAYNSKGAGPESEPYIFQTPEGVPEQPTFLKVIKVDKDTATLSWGLPKKLNGNLTGYLLQYQIINDTYEIGELNDINITTPSKPSWHLSNLNATTKYKFYLRACTSQGCGKPITEESSTLGEGSKGIGKISGVNLTQKTHPIEVFEPGAEHIVRLMTKNWGDNDSIFQDVIETRGREYAGLYDDISTQGWFIGLMCAIALLTLLLLTVCFVKRNRGGKYSVKEKEDLHPDPEIQSVKDETFGEYSDSDEKPLKGSLRSLNRDMQPTESADSLVEYGEGDHGLFSEDGSFIGAYAGSKEKGSVESNGSSTATFPLRA", "length": 1208, "header": "sp|O00533-1|NCHL1_HUMAN Isoform 1 of Neural cell adhesion molecule L1-like protein OS=Homo sapiens OX=9606 GN=CHL1 PE=1 SV=4 CANONICAL=O00533-1" }, "isoforms": [ { "isoform_ac": "A0A087X0M8-1", "url": "", "sequence": { "sequence": "MEPLLLGRGLIVYLMFLLLKFSKAIEIPSSVQQVPTIIKQSKVQVAFPFDEYFQIECEAKGNPEPTFSWTKDGNPFYFTDHRIIPSNNSGTFRIPNEGHISHFQGKYRCFASNKLGIAMSEEIEFIVPSVPKFPKEKIDPLEVEEGDPIVLPCNPPKGLPPLHIYWMNIELEHIEQDERVYMSQKGDLYFANVEEKDSRNDYCCFAAFPRLRTIVQKMPMKLTVNSLKHANDSSSSTEIGSKANSIKQRKPKLLLPPTESGSESSITILKGEILLLECFAEGLPTPQVDWNKIGGDLPKGRETKENYGKTLKIENVSYQDKGNYRCTASNFLGTATHDFHVIVEEPPRWTKKPQSAVYSTGSNGILLCEAEGEPQPTIKWRVNGSPVDNHPFAGDVVFPREISFTNLQPNHTAVYQCEASNVHGTILANANIDVVDVRPLIQTKDGENYATVVGYSAFLHCEFFASPEAVVSWQKVEEVKPLEGRRYHIYENGTLQINRTTEEDAGSYSCWVENAIGKTAVTANLDIRNATKLRVSPKNPRIPKLHMLELHCESKCDSHLKHSLKLSWSKDGEAFEINGTEDGRIIIDGANLTISNVTLEDQGIYCCSAHTALDSAADITQVTVLDVPDPPENLHLSERQNRSVRLTWEAGADHNSNISEYIVEFEGNKEEPGRWEELTRVQGKKTTVILPLAPFVRYQFRVIAVNEVGRSQPSQPSDHHETPPAAPDRNPQNIRVQASQPKEMIIKWEPLKSMEQNGPGLEYRVTWKPQGAPVEWEEETVTNHTLRVMTPAVYAPYDVKVQAINQLGSGPDPQSVTLYSGEDYPDTAPVIHGVDVINSTLVKVTWSTVPKDRVHGRLKGYQINWWKTKSLLDGRTHPKEVNILRFSGQRNSGMVPSLDAFSEFHLTVLAYNSKGAGPESEPYIFQTPEGVPEQPTFLKVIKVDKDTATLSWGLPKKLNGNLTGYLLQYQIINDTYEIGELNDINITTPSKPSWHLSNLNATTKYKFYLRACTSQGCGKPITEESSTLGEGKYAGLYDDISTQGWFIGLMCAIALLTLLLLTVCFVKRNRGGKYSVKEKEDLHPDPEIQSVKDETFGEYSDSDEKPLKGSLRSLNRDMQPTESADSLVEYGEGDHGLFSEDGSFIGAYAGSKEKGSVESNGSSTATFPLRA", "length": 1171, "header": "tr|A0A087X0M8-1|NCHL1_HUMAN Computationally mapped isoform of Neural cell adhesion molecule L1-like protein OS=Homo sapiens OX=9606 GN=CHL1 PE=1 SV=1 CANONICAL=O00533-1" }, "locus": { "chromosome": "3", "start_pos": 405708, "end_pos": 319777, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000620033.4", "url": "https://www.ensembl.org/id/ENST00000620033.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000483512.1", "url": "https://www.ensembl.org/id/ENSP00000483512.1" } ] } }, { "isoform_ac": "C9J905-1", "url": "", "sequence": { "sequence": "MEPLLLGRGLIVYLMFLLLKFSKAIEIPSSVQQVPTIIKQSKVQVAFPFDEYFQIECEAKGNPEPTFSWTKDGNPFYFTDHRIIPSNNSGTFRIPNEGHISHFQGKYRCFASNKLGIAMSEEIEFIVPSVPKFPKEKIDPLEVEEGDPIVLPCNPPKGLPPLHIYWMNIELEHIEQDERVY", "length": 181, "header": "tr|C9J905-1|C9J905_HUMAN Computationally mapped isoform of Cell adhesion molecule L1 like OS=Homo sapiens OX=9606 GN=CHL1 PE=1 SV=1 CANONICAL=O00533-1" }, "locus": { "chromosome": "3", "start_pos": 341946, "end_pos": 319777, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000435603.5", "url": "https://www.ensembl.org/id/ENST00000435603.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000397445.1", "url": "https://www.ensembl.org/id/ENSP00000397445.1" } ] } }, { "isoform_ac": "C9JEY3-1", "url": "", "sequence": { "sequence": "MEPLLLGRGLIVYLMFLLLKFSKAIEIPSSVQQVPTIIKQSKVQVAFPFDEYFQIECEAKGNPEP", "length": 65, "header": "tr|C9JEY3-1|NCHL1_HUMAN Computationally mapped isoform of Neural cell adhesion molecule L1-like protein OS=Homo sapiens OX=9606 GN=CHL1 PE=1 SV=8 CANONICAL=O00533-1" }, "locus": { "chromosome": "3", "start_pos": 326062, "end_pos": 319777, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000427688.5", "url": "https://www.ensembl.org/id/ENST00000427688.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000403311.1", "url": "https://www.ensembl.org/id/ENSP00000403311.1" } ] } }, { "isoform_ac": "C9JH37-1", "url": "", "sequence": { "sequence": "MEPLLLGRGLIVYLMFLLLKFSKAIEIPSSVQQVPTIIKQSKVQVAFPFDEYFQIECEAKGNPEPTFSWTKDGNPFYFTDHRII", "length": 84, "header": "tr|C9JH37-1|NCHL1_HUMAN Computationally mapped isoform of Neural cell adhesion molecule L1-like protein OS=Homo sapiens OX=9606 GN=CHL1 PE=1 SV=8 CANONICAL=O00533-1" }, "locus": { "chromosome": "3", "start_pos": 328221, "end_pos": 319777, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000449294.6", "url": "https://www.ensembl.org/id/ENST00000449294.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000390440.2", "url": "https://www.ensembl.org/id/ENSP00000390440.2" } ] } }, { "isoform_ac": "C9JW79-1", "url": "", "sequence": { "sequence": "MEPLLLGRGLIVYLMFLLLKFSKAIEIPSSVQQVPTIIKQSKVQVAFPFDEYFQIECEAKGNPEPTFSWTKDGNPFYFTDHRIIPSNNSGTFRIPN", "length": 96, "header": "tr|C9JW79-1|NCHL1_HUMAN Computationally mapped isoform of Neural cell adhesion molecule L1-like protein OS=Homo sapiens OX=9606 GN=CHL1 PE=1 SV=1 CANONICAL=O00533-1" }, "locus": { "chromosome": "3", "start_pos": 328257, "end_pos": 319777, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000421198.5", "url": "https://www.ensembl.org/id/ENST00000421198.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000413628.1", "url": "https://www.ensembl.org/id/ENSP00000413628.1" } ] } }, { "isoform_ac": "F8WEP4-1", "url": "", "sequence": { "sequence": "MPPAWSGESMDRGVVGLGSTKTQRGARAPPPQTAEGREGAPGAVVAMAPGSGARGAGDAGRGWSLLPLCASLFLSLFFFFWSVSVRGEAARRK", "length": 93, "header": "tr|F8WEP4-1|NCHL1_HUMAN Computationally mapped isoform of Neural cell adhesion molecule L1-like protein OS=Homo sapiens OX=9606 GN=CHL1 PE=1 SV=1 CANONICAL=O00533-1" }, "locus": {} }, { "isoform_ac": "H7C0J0-1", "url": "", "sequence": { "sequence": "XSVTLYSGEDYPDTAPVIHGVDVINSTLVKVTWSTVPKDRVHGRLKGYQINWWKTKSLLDGRTHPKEVNILRFSGQRNSGMVPSLDAFSEFHLTVLAYNSKGAGPESEPYIFQTPEGVPEQPTFLKVIKVDKDTATLSWGLPKKLNGNLTGYLLQYQIINDTYEIGELNDINITTPSKPSWHLSNLNATTKYKFYLRACTSQGCGKPITEESSTLGEGKYAGLYDDISTQGWFIGLMCAIALLTLLLLTVCFVKRNRGGKYSVKEKEDLHPDPEIQSVKDETFGEYSDSDEKPLKGSLRSLNRDMQPTESADSLVEYGEGDHGLFSEDGSFIGAYAGSKEKGSVESNGSSTATFPLRA", "length": 358, "header": "tr|H7C0J0-1|NCHL1_HUMAN Computationally mapped isoform of Neural cell adhesion molecule L1-like protein OS=Homo sapiens OX=9606 GN=CHL1 PE=1 SV=2 CANONICAL=O00533-1" }, "locus": { "chromosome": "3", "start_pos": 405709, "end_pos": 389445, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000445697.1", "url": "https://www.ensembl.org/id/ENST00000445697.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000395239.2", "url": "https://www.ensembl.org/id/ENSP00000395239.2" } ] } }, { "isoform_ac": "O00533-1", "url": "", "sequence": { "sequence": "MEPLLLGRGLIVYLMFLLLKFSKAIEIPSSVQQVPTIIKQSKVQVAFPFDEYFQIECEAKGNPEPTFSWTKDGNPFYFTDHRIIPSNNSGTFRIPNEGHISHFQGKYRCFASNKLGIAMSEEIEFIVPSVPKFPKEKIDPLEVEEGDPIVLPCNPPKGLPPLHIYWMNIELEHIEQDERVYMSQKGDLYFANVEEKDSRNDYCCFAAFPRLRTIVQKMPMKLTVNSSNSIKQRKPKLLLPPTESGSESSITILKGEILLLECFAEGLPTPQVDWNKIGGDLPKGRETKENYGKTLKIENVSYQDKGNYRCTASNFLGTATHDFHVIVEEPPRWTKKPQSAVYSTGSNGILLCEAEGEPQPTIKWRVNGSPVDNHPFAGDVVFPREISFTNLQPNHTAVYQCEASNVHGTILANANIDVVDVRPLIQTKDGENYATVVGYSAFLHCEFFASPEAVVSWQKVEEVKPLEGRRYHIYENGTLQINRTTEEDAGSYSCWVENAIGKTAVTANLDIRNATKLRVSPKNPRIPKLHMLELHCESKCDSHLKHSLKLSWSKDGEAFEINGTEDGRIIIDGANLTISNVTLEDQGIYCCSAHTALDSAADITQVTVLDVPDPPENLHLSERQNRSVRLTWEAGADHNSNISEYIVEFEGNKEEPGRWEELTRVQGKKTTVILPLAPFVRYQFRVIAVNEVGRSQPSQPSDHHETPPAAPDRNPQNIRVQASQPKEMIIKWEPLKSMEQNGPGLEYRVTWKPQGAPVEWEEETVTNHTLRVMTPAVYAPYDVKVQAINQLGSGPDPQSVTLYSGEDYPDTAPVIHGVDVINSTLVKVTWSTVPKDRVHGRLKGYQINWWKTKSLLDGRTHPKEVNILRFSGQRNSGMVPSLDAFSEFHLTVLAYNSKGAGPESEPYIFQTPEGVPEQPTFLKVIKVDKDTATLSWGLPKKLNGNLTGYLLQYQIINDTYEIGELNDINITTPSKPSWHLSNLNATTKYKFYLRACTSQGCGKPITEESSTLGEGSKGIGKISGVNLTQKTHPIEVFEPGAEHIVRLMTKNWGDNDSIFQDVIETRGREYAGLYDDISTQGWFIGLMCAIALLTLLLLTVCFVKRNRGGKYSVKEKEDLHPDPEIQSVKDETFGEYSDSDEKPLKGSLRSLNRDMQPTESADSLVEYGEGDHGLFSEDGSFIGAYAGSKEKGSVESNGSSTATFPLRA", "length": 1208, "header": "sp|O00533-1|NCHL1_HUMAN Isoform 1 of Neural cell adhesion molecule L1-like protein OS=Homo sapiens OX=9606 GN=CHL1 PE=1 SV=4 CANONICAL=O00533-1" }, "locus": { "chromosome": "3", "start_pos": 405708, "end_pos": 319777, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000397491.6", "url": "https://www.ensembl.org/id/ENST00000397491.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000380628.2", "url": "https://www.ensembl.org/id/ENSP00000380628.2" } ] } }, { "isoform_ac": "O00533-2", "url": "", "sequence": { "sequence": "MEPLLLGRGLIVYLMFLLLKFSKAIEIPSSVQQVPTIIKQSKVQVAFPFDEYFQIECEAKGNPEPTFSWTKDGNPFYFTDHRIIPSNNSGTFRIPNEGHISHFQGKYRCFASNKLGIAMSEEIEFIVPSVPKFPKEKIDPLEVEEGDPIVLPCNPPKGLPPLHIYWMNIELEHIEQDERVYMSQKGDLYFANVEEKDSRNDYCCFAAFPRLRTIVQKMPMKLTVNSLKHANDSSSSTEIGSKANSIKQRKPKLLLPPTESGSESSITILKGEILLLECFAEGLPTPQVDWNKIGGDLPKGRETKENYGKTLKIENVSYQDKGNYRCTASNFLGTATHDFHVIVEEPPRWTKKPQSAVYSTGSNGILLCEAEGEPQPTIKWRVNGSPVDNHPFAGDVVFPREISFTNLQPNHTAVYQCEASNVHGTILANANIDVVDVRPLIQTKDGENYATVVGYSAFLHCEFFASPEAVVSWQKVEEVKPLEGRRYHIYENGTLQINRTTEEDAGSYSCWVENAIGKTAVTANLDIRNATKLRVSPKNPRIPKLHMLELHCESKCDSHLKHSLKLSWSKDGEAFEINGTEDGRIIIDGANLTISNVTLEDQGIYCCSAHTALDSAADITQVTVLDVPDPPENLHLSERQNRSVRLTWEAGADHNSNISEYIVEFEGNKEEPGRWEELTRVQGKKTTVILPLAPFVRYQFRVIAVNEVGRSQPSQPSDHHETPPAAPDRNPQNIRVQASQPKEMIIKWEPLKSMEQNGPGLEYRVTWKPQGAPVEWEEETVTNHTLRVMTPAVYAPYDVKVQAINQLGSGPDPQSVTLYSGEDYPDTAPVIHGVDVINSTLVKVTWSTVPKDRVHGRLKGYQINWWKTKSLLDGRTHPKEVNILRFSGQRNSGMVPSLDAFSEFHLTVLAYNSKGAGPESEPYIFQTPEGVPEQPTFLKVIKVDKDTATLSWGLPKKLNGNLTGYLLQYQIINDTYEIGELNDINITTPSKPSWHLSNLNATTKYKFYLRACTSQGCGKPITEESSTLGEGSKGIGKISGVNLTQKTHPIEVFEPGAEHIVRLMTKNWGDNDSIFQDVIETRGREYAGLYDDISTQGWFIGLMCAIALLTLLLLTVCFVKRNRGGKYSVKEKEDLHPDPEIQSVKDETFGEYSDSDEKPLKGSLRSLNRDMQPTESADSLVEYGEGDHGLFSEDGSFIGAYAGSKEKGSVESNGSSTATFPLRA", "length": 1224, "header": "sp|O00533-2|NCHL1_HUMAN Isoform 2 of Neural cell adhesion molecule L1-like protein OS=Homo sapiens OX=9606 GN=CHL1 PE=1 SV=4 CANONICAL=O00533-1" }, "locus": { "chromosome": "3", "start_pos": 405708, "end_pos": 319777, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000256509.7", "url": "https://www.ensembl.org/id/ENST00000256509.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000256509.2", "url": "https://www.ensembl.org/id/ENSP00000256509.2" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G06356OH", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 1026, "start_aa": "Asn", "end_pos": 1026, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1026", "evidence": [ { "id": "1960", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1960" }, { "id": "29391424", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29391424" } ] }, { "glytoucan_ac": "G37881RL", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 1026, "start_aa": "Asn", "end_pos": 1026, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1026", "evidence": [ { "id": "1960", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1960" }, { "id": "29391424", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29391424" } ] }, { "glytoucan_ac": "G48414YA", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 1026, "start_aa": "Asn", "end_pos": 1026, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1026", "evidence": [ { "id": "1960", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1960" }, { "id": "29391424", "database": "PubMed", "url": 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[ { "type": "PubMed", "id": "29671580", "url": "https://glygen.org/publication/PubMed/29671580" } ] }, { "title": "CHL1 expression differentiates Hurthle cell carcinoma from benign Hurthle cell nodules.", "journal": "Journal of surgical oncology", "date": "2018", "authors": "Li W, Xia S, Aronova A, Min IM, Verma A, Scognamiglio T, Gray KD, Ullmann TM, Liang H, Moore MD, Elemento O, Zarnegar R, Fahey TJ", "evidence": [ { "database": "GlyGen", "id": "A0331", "url": "https://data.glygen.org/GLY_000625" } ], "reference": [ { "type": "PubMed", "id": "30311656", "url": "https://glygen.org/publication/PubMed/30311656" } ] }, { "title": "Analysis of the functional sequences in the promoter region of the human adhesion molecule close homolog of L1.", "journal": "The International journal of neuroscience", "date": "2022", "authors": "Yoo M, Kayastha N, Kwon O, Man W, Cai L, Schachner M", "evidence": [ { "database": "RefSeq", "id": "NP_001240316", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001240316" } ], "reference": [ { "type": "PubMed", "id": "33054469", "url": "https://glygen.org/publication/PubMed/33054469" } ] }, { "title": "Ezrin interacts with the tumor suppressor CHL1 and promotes neuronal differentiation of human neuroblastoma.", "journal": "PloS one", "date": "2020", "authors": "Ognibene M, Pezzolo A", "evidence": [ { "database": "RefSeq", "id": "NP_001240316", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001240316" } ], "reference": [ { "type": "PubMed", "id": "33326488", "url": "https://glygen.org/publication/PubMed/33326488" } ] }, { "title": "Cell adhesion molecule L1 like plays a role in the pathogenesis of idiopathic hypogonadotropic hypogonadism.", "journal": "Journal of endocrinological investigation", "date": "2021", "authors": "Chen Y, Sun T, Niu Y, Wang D, Liu K, Wang T, Wang S, Xu H, Liu J", "evidence": [ { "database": "RefSeq", "id": "NP_001240316", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001240316" } ], "reference": [ { "type": "PubMed", "id": "33453020", "url": "https://glygen.org/publication/PubMed/33453020" } ] }, { "title": "Exosomal miR-338-3p suppresses non-small-cell lung cancer cells metastasis by inhibiting CHL1 through the MAPK signaling pathway.", "journal": "Cell death & disease", "date": "2021", "authors": "Tian W, Yang X, Yang H, Lv M, Sun X, Zhou B", "evidence": [ { "database": "RefSeq", "id": "NP_001240316", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001240316" } ], "reference": [ { "type": "PubMed", "id": "34718336", "url": "https://glygen.org/publication/PubMed/34718336" } ] }, { "title": "Expression of CHL1 in Clear Cell Renal Cell Carcinoma and its Association With Prognosis.", "journal": "Applied immunohistochemistry & molecular morphology : AIMM", "date": "2022", "authors": "Qin M, Gao X, Luo W, Ou K, Lu H, Liu H, Zhuang Q", "evidence": [ { "database": "RefSeq", "id": "NP_001240316", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001240316" } ], "reference": [ { "type": "PubMed", "id": "35262525", "url": "https://glygen.org/publication/PubMed/35262525" } ] }, { "title": "In silico-initiated cloning and molecular characterization of a novel human member of the L1 gene family of neural cell adhesion molecules.", "journal": "Hum. Genet.", "date": "1998", "authors": "Wei MH, Karavanova I, Ivanov SV, Popescu NC, Keck CL, Pack S, Eisen JA, Lerman MI", "evidence": [ { "database": "UniProtKB", "id": "O00533", "url": "https://www.uniprot.org/uniprot/O00533" } ], "reference": [ { "type": "PubMed", "id": "9799093", "url": "https://glygen.org/publication/PubMed/9799093" } ] } ], "pathway": [ { "id": "hsa:10752", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:10752", "resource": "KEGG Pathway" }, { "id": "R-HSA-447041", "name": "CHL1 interactions", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-447041", "resource": "Reactome", "description": "CHL1 interactions" } ], "orthologs": [ { "uniprot_canonical_ac": "M0RC17-1", "protein_name": "Cell adhesion molecule L1-like", "gene_name": "Chl1", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": 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"length": 1209 }, "evidence": [ { "id": "45922747", "url": "http://www.informatics.jax.org/homology/45922747", "database": "MGI" }, { "id": "O00533", "url": "https://omabrowser.org/oma/group/O00533/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 5, "go_terms": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "O00533", "url": "https://www.uniprot.org/uniprot/O00533" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O00533", "url": "https://www.uniprot.org/uniprot/O00533" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "O00533", "url": "https://www.uniprot.org/uniprot/O00533" } ], "pmid": "" }, { "name": "apical part of cell", "id": "GO:0045177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045177", "evidence": [ { "database": "UniProtKB", "id": "O00533", "url": "https://www.uniprot.org/uniprot/O00533" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "O00533", "url": "https://www.uniprot.org/uniprot/O00533" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 1, "go_terms": [ { "name": "protease binding", "id": "GO:0002020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002020", "evidence": [ { "database": "UniProtKB", "id": "O00533", "url": "https://www.uniprot.org/uniprot/O00533" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 8, "go_terms": [ { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "O00533", "url": "https://www.uniprot.org/uniprot/O00533" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "O00533", "url": "https://www.uniprot.org/uniprot/O00533" } ], "pmid": "" }, { "name": "adult locomotory behavior", "id": "GO:0008344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008344", "evidence": [ { "database": "UniProtKB", "id": "O00533", "url": "https://www.uniprot.org/uniprot/O00533" } ], "pmid": "" }, { "name": "cognition", "id": "GO:0050890", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050890", "evidence": [ { "database": "UniProtKB", "id": "O00533", "url": "https://www.uniprot.org/uniprot/O00533" } ], "pmid": "" }, { "name": "neuron migration", "id": "GO:0001764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001764", "evidence": [ { "database": "UniProtKB", "id": "O00533", "url": "https://www.uniprot.org/uniprot/O00533" } ], "pmid": "" }, { "name": "exploration behavior", "id": "GO:0035640", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035640", "evidence": [ { "database": "UniProtKB", "id": "O00533", "url": "https://www.uniprot.org/uniprot/O00533" } ], "pmid": "" }, { "name": "negative regulation of neuron apoptotic process", "id": "GO:0043524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043524", "evidence": [ { "database": "UniProtKB", "id": "O00533", "url": "https://www.uniprot.org/uniprot/O00533" } ], "pmid": "" }, { "name": "axon guidance", "id": "GO:0007411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007411", "evidence": [ { "database": "UniProtKB", "id": "O00533", "url": "https://www.uniprot.org/uniprot/O00533" } ], "pmid": "" } ] } ] }, "pro_annotation": [ { "name": "neural cell adhesion molecule L1-like protein N-glycosylated 1 (human)", "definition": "A neural cell adhesion molecule L1-like protein (human) that has been N-glycosylated at the residue equivalent to Asn-394 of the amino acid sequence represented by UniProtKB:O00533-1, in which the glycan composition is represented by GlyTouCan:G00912UN. Example: UniProtKB:O00533-1, Asn-394, MOD:00160~GNO:G00912UN. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000050676", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000050676" } ] } ], "site_annotation": [ { "start_pos": 1026, "end_pos": 1028, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1055, "end_pos": 1057, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1197, "end_pos": 1199, "annotation": "n_glycosylation_sequon" }, { "start_pos": 225, "end_pos": 227, "annotation": "n_glycosylation_sequon" }, { "start_pos": 299, "end_pos": 301, "annotation": "n_glycosylation_sequon" }, { "start_pos": 367, "end_pos": 369, "annotation": "n_glycosylation_sequon" }, { "start_pos": 394, "end_pos": 396, "annotation": "n_glycosylation_sequon" }, { "start_pos": 476, "end_pos": 478, "annotation": "n_glycosylation_sequon" }, { "start_pos": 482, "end_pos": 484, "annotation": "n_glycosylation_sequon" }, { "start_pos": 513, "end_pos": 515, "annotation": "n_glycosylation_sequon" }, { "start_pos": 562, "end_pos": 564, "annotation": "n_glycosylation_sequon" }, { "start_pos": 575, "end_pos": 577, "annotation": "n_glycosylation_sequon" }, { "start_pos": 580, "end_pos": 582, "annotation": "n_glycosylation_sequon" }, { "start_pos": 625, "end_pos": 627, "annotation": "n_glycosylation_sequon" }, { "start_pos": 641, "end_pos": 643, "annotation": "n_glycosylation_sequon" }, { "start_pos": 767, "end_pos": 769, "annotation": "n_glycosylation_sequon" }, { "start_pos": 822, "end_pos": 824, "annotation": "n_glycosylation_sequon" }, { "start_pos": 87, "end_pos": 89, "annotation": "n_glycosylation_sequon" }, { "start_pos": 945, "end_pos": 947, "annotation": "n_glycosylation_sequon" }, { "start_pos": 957, "end_pos": 959, "annotation": "n_glycosylation_sequon" }, { "start_pos": 969, "end_pos": 971, "annotation": "n_glycosylation_sequon" }, { "start_pos": 984, "end_pos": 986, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [ { "assessed_biomarker_entity": "Close homolog of L1 (CHL1)", "biomarker_id": "A0331", "evidence": [ { "id": "GLY_000625", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000625" }, { "id": "30311656", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30311656" } ], "instances": [ { "best_biomarker_type": "prognostic", "status": "increased CHL1 level", "disease": { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": 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